Linked Data
ClinVar Variation Id:
318444
dbSNP Id:
rs762486495
ExAC:
16:23391963 T / C
gnomAD v2:
16-23391963-T-C
gnomAD v3:
16-23380642-T-C
gnomAD v4:
16-23380642-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380642T>C , CM000678.2:g.23380642T>C | GRCh38 |
| NC_000016.9:g.23391963T>C , CM000678.1:g.23391963T>C | GRCh37 |
| NC_000016.8:g.23299464T>C | NCBI36 |
| NG_011908.1:g.83373T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1764T>C MANE Select | ENSP00000345751.2:p.Phe588= | |
| ENST00000307331.9:c.1899T>C | ENSP00000302874.5:p.Phe633= | |
| ENST00000343070.6:c.1764T>C | ENSP00000345751.2:p.Phe588= | |
| ENST00000564275.5:c.*769T>C | ENSP00000457754.1:n.*769T>C | |
| ENST00000568085.5:c.1656T>C | ENSP00000455673.1:p.Phe552= | |
| ENST00000568923.5:c.1683T>C | ENSP00000456309.1:p.Phe561= | |
| NM_000336.2:c.1764T>C | NP_000327.2:p.Phe588= | |
| XM_011545913.1:c.1797T>C | XP_011544215.1:p.Phe599= | |
| XM_011545914.1:c.1782T>C | XP_011544216.1:p.Phe594= | |
| XM_011545913.2:c.1797T>C | XP_011544215.1:p.Phe599= | |
| XM_017023525.1:c.1821T>C | XP_016879014.1:p.Phe607= | |
| XM_017023526.1:c.1713T>C | XP_016879015.1:p.Phe571= | |
| NM_000336.3:c.1764T>C MANE Select | NP_000327.2:p.Phe588= |